Familial Alzheimer's disease: Site of mutation influences clinical phenotype

Authors
Lippa, CF Swearer, JM Kane, KJ Nochlin, D Bird, TD Ghetti, B Nee, LE St George-Hyslop, P Pollen, DA Drachman, DA
Citation
Cf. Lippa et al., Familial Alzheimer's disease: Site of mutation influences clinical phenotype, ANN NEUROL, 48(3), 2000, pp. 376-379
Citations number
11
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
ANNALS OF NEUROLOGY
ISSN journal
03645134 → ACNP
Volume
48
Issue
3
Year of publication
2000
Pages
376 - 379
Database
ISI
SICI code
0364-5134(200009)48:3<376:FADSOM>2.0.ZU;2-S
Abstract
Alzheimer's disease (AD) is caused by multiple genetic and/or environmental etiologies. Because differences in the genetically determined pathogenesis may cause differences in the phenotype, we examined age at onset and age a t death in 90 subjects with dominantly inherited AD due to different mutati ons (amyloid precursor protein, presenilin-1, and presenilin-2 genes). We f ound that among patients with dominantly inherited AD, genetic factors infl uence both age at onset and age at death.